Detalhe da pesquisa
1.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
2.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
3.
Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.
Mol Genet Metab
; 128(4): 409-414, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481313
4.
Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic.
J Genet Couns
; 28(2): 398-406, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30762915
5.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
6.
Descemet's membrane endothelial keratoplasty: clinical results of single versus triple procedures (combined with cataract surgery).
Ophthalmology
; 121(2): 454-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24252821
7.
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Mol Genet Genomic Med
; 8(5): e1211, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162493
8.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Mol Genet Genomic Med
; 8(11): e1477, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32918542
9.
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
Eur J Med Genet
; 63(4): 103850, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31954878
10.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
11.
Rapid sequential endothelial keratoplasty with and without combined cataract extraction.
J Cataract Refract Surg
; 39(9): 1372-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820303